Canonical Allele Identifier: CA446358361
Gene: IRF1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.131819703C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132484011C>G , CM000667.2:g.132484011C>G GRCh38
NC_000005.9:g.131819703C>G , CM000667.1:g.131819703C>G GRCh37
NC_000005.8:g.131847602C>G NCBI36
NG_011450.1:g.11763G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000245414.9:c.918G>C MANE Select ENSP00000245414.4:p.Leu306=
ENST00000638452.2:c.-169+34322C>G ENSP00000492349.2:n.-169+34322C>G
ENST00000638504.1:n.206+64071C>G
ENST00000638568.2:c.-311+34322C>G ENSP00000491158.2:n.-311+34322C>G
ENST00000639899.1:n.289+34322C>G
ENST00000640655.2:c.-637-2181C>G ENSP00000491596.2:n.-637-2181C>G
ENST00000679743.1:c.539G>C ENSP00000505257.1:n.539G>C
ENST00000679786.1:n.130+2546G>C
ENST00000679860.1:c.206G>C
ENST00000679921.1:c.292+2546G>C ENSP00000505766.1:n.292+2546G>C
ENST00000679945.1:n.130+2546G>C
ENST00000679964.1:n.50+1656G>C
ENST00000680139.1:c.732G>C ENSP00000506148.1:p.Leu244=
ENST00000680380.1:n.136+351G>C
ENST00000680562.1:c.366G>C ENSP00000505853.1:p.Leu122=
ENST00000680594.1:n.136+351G>C
ENST00000680903.1:c.795G>C ENSP00000505720.1:p.Leu265=
ENST00000681049.1:n.50+1656G>C
ENST00000681240.1:c.168G>C ENSP00000506034.1:p.Leu56=
ENST00000681336.1:c.165G>C ENSP00000505242.1:p.Leu55=
ENST00000681462.1:c.755G>C
ENST00000681595.1:c.479G>C ENSP00000506023.1:n.479G>C
ENST00000681634.1:n.136+351G>C
ENST00000681694.1:c.230G>C ENSP00000506552.1:n.230G>C
ENST00000681715.1:c.416G>C ENSP00000506545.1:n.416G>C
ENST00000245414.8:c.918G>C ENSP00000245414.4:p.Leu306=
ENST00000405885.6:c.918G>C ENSP00000384406.1:p.Leu306=
ENST00000472045.1:n.4227G>C
NM_002198.2:c.918G>C NP_002189.1:p.Leu306=
XM_011543378.1:c.795G>C XP_011541680.1:p.Leu265=
XM_011543379.1:c.666G>C XP_011541681.1:p.Leu222=
XR_427711.2:n.979G>C
NM_001354924.1:c.795G>C NP_001341853.1:p.Leu265=
NM_001354925.1:c.732G>C NP_001341854.1:p.Leu244=
NR_149068.1:n.979G>C
XM_011543379.2:c.666G>C XP_011541681.1:p.Leu222=
NM_002198.3:c.918G>C MANE Select NP_002189.1:p.Leu306=